SFEBES2023 Poster Presentations Neuroendocrinology and Pituitary (74 abstracts)
A rare case of phaeochromocytoma secondary to Phosphatase and Tensin Homolog (PTEN) mutation
Kavita Narula 1,2 , Katharine Lazarus 1,2 , Bhavna Sharma 1 , Wei Yang 3,2 , Kleopatra Alexiadou 2 , Parizad Avari 1 , Elaine Hui 4 , Bianca Desouza 4 & Tricia Tan 1,2,5
1Department of Endocrinology, Imperial College Healthcare NHS Trust, London, United Kingdom. 2Division of Diabetes, Endocrinology and Metabolism, Department of Metabolism, Digestion and Reproduction, Imperial College London, London, United Kingdom. 3Imperial College Healthcare NHS Trust, London, United Kingdom. 4London North West University Healthcare NHS Trust, London, United Kingdom. 5Department of Clinical Biochemistry, Northwest London Pathology, London, United Kingdom
A 65-year-old female with PTEN Hamartoma Tumour Syndrome, Follicular thyroid carcinoma, and Endometrial Carcinoma, presented at a tertiary centre due to an asymptomatic adrenal lesion. Previous genetic testing for phaeochromocytoma and paraganglioma in 2020 showed no pathogenic variants in multiple genes (FH, MAX, MEN1, SDHx, SDHAF2, TMEM127, VHL, RET gene). Recent imaging revealed a 9 cm left supra-renal lesion that had been gradually increasing in size since 2010. Plasma normetanephrines were significantly elevated. A biopsy of the left adrenal mass from 2011 (performed outside our centre) was re-examined and showed a granular, oncocytic cytoplasm, positive for chromogranin and negative for cytokeratinin. The features were compatible with phaeochromocytoma. The patient underwent alpha-blockade and subsequent laparoscopic left adrenalectomy. Paragangliomas and phaeochromocytomas are rare neuroendocrine tumours that originate from cells of the autonomic nervous system. They typically develop in the adrenal glands (phaeochromocytoma) or parasympathetic ganglia in the head, neck, or abdomen (paraganglioma). Paragangliomas and phaeochromocytomas can occur sporadically or be hereditary due to genetic mutations. PTEN (phosphatase and tensin homolog), a tumour suppressor gene, regulates cell growth, division, and death. Mutations in the PTEN gene lead to PTEN hamartoma tumour syndrome. This increases the risk of developing various tumours, but very rarely paragangliomas and phaeochromocytomas. PTEN mutations are not known to be associated with paragangliomas and phaeochromocytomas in humans, but have shown to be associated in PTEN knockout mouse models. We do not routinely screen for PTEN mutations in patients who present with paragangliomas and phaeochromocytomas. Hereditary paragangliomas and phaeochromocytomas have been linked to several genetic mutations. Individuals with PTEN mutations have an increased risk of developing multiple malignancies. This case demonstrates a rare case of phaeochromocytoma secondary to PTEN mutation.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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